ClinVar for Gene (Select 284) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344962	NM_001146.5(ANGPT1):c.434T>C (p.Leu145Pro)	ANGPT1 (L145P)	Single nucleotide variant (missense variant)	ANGPT1-related disorder	GUncertain significance
Select item 3245560	NC_000008.10:g.(?_108509470)_(108509786_?)dup	ANGPT1	Duplication	not provided	GUncertain significance
Select item 3245559	NC_000008.10:g.(?_108262669)_(109096029_?)dup	ANGPT1, RSPO2	Duplication	not provided	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3061271	NM_001146.5(ANGPT1):c.796A>G (p.Thr266Ala)	ANGPT1 (T266A +1 more)	Single nucleotide variant (missense variant)	ANGPT1-related disorder	GUncertain significance
Select item 3030941	NM_001146.5(ANGPT1):c.490C>T (p.Leu164=)	ANGPT1	Single nucleotide variant (synonymous variant +1 more)	ANGPT1-related disorder	GLikely benign
Select item 3018916	NM_001146.5(ANGPT1):c.541A>G (p.Thr181Ala)	ANGPT1 (T181A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3015691	NM_001146.5(ANGPT1):c.49A>G (p.Ile17Val)	ANGPT1 (I17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013821	NM_001146.5(ANGPT1):c.996T>C (p.Asp332=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010180	NM_001146.5(ANGPT1):c.48C>G (p.His16Gln)	ANGPT1 (H16Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008919	NM_001146.5(ANGPT1):c.684T>C (p.Tyr228=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005722	NM_001146.5(ANGPT1):c.526C>T (p.Gln176Ter)	ANGPT1 (Q176*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3001734	NM_001146.5(ANGPT1):c.117G>A (p.Gly39=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999306	NM_001146.5(ANGPT1):c.357A>G (p.Ala119=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996498	NM_001146.5(ANGPT1):c.197C>T (p.Ala66Val)	ANGPT1 (A66V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995120	NM_001146.5(ANGPT1):c.655C>G (p.Leu219Val)	ANGPT1 (L19V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994059	NM_001146.5(ANGPT1):c.962G>A (p.Gly321Glu)	ANGPT1 (G320E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992322	NM_001146.5(ANGPT1):c.264T>A (p.His88Gln)	ANGPT1 (H88Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991913	NM_001146.5(ANGPT1):c.168G>A (p.Glu56=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991104	NM_001146.5(ANGPT1):c.553T>C (p.Leu185=)	ANGPT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990741	NM_001146.5(ANGPT1):c.1039-14A>G	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989759	NM_001146.5(ANGPT1):c.645G>T (p.Glu215Asp)	ANGPT1 (E215D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987583	NM_001146.5(ANGPT1):c.708A>G (p.Gln236=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987201	NM_001146.5(ANGPT1):c.297+19T>G	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986142	NM_001146.5(ANGPT1):c.453+18A>T	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980401	NM_001146.5(ANGPT1):c.517C>T (p.Leu173=)	ANGPT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976027	NM_001146.5(ANGPT1):c.936+6A>C	ANGPT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2975394	NM_001146.5(ANGPT1):c.298-4G>A	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974914	NM_001146.5(ANGPT1):c.229G>A (p.Asp77Asn)	ANGPT1 (D77N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973856	NM_001146.5(ANGPT1):c.520G>C (p.Glu174Gln)	ANGPT1 (E174Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969510	NM_001146.5(ANGPT1):c.68G>A (p.Arg23His)	ANGPT1 (R23H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969484	NM_001146.5(ANGPT1):c.310A>G (p.Ile104Val)	ANGPT1 (I104V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968699	NM_001146.5(ANGPT1):c.453+17G>A	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968481	NM_001146.5(ANGPT1):c.1460G>A (p.Arg487His)	ANGPT1 (R487H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967136	NM_001146.5(ANGPT1):c.126C>T (p.Ala42=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966581	NM_001146.5(ANGPT1):c.110A>G (p.Gln37Arg)	ANGPT1 (Q37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957138	NM_001146.5(ANGPT1):c.132T>C (p.Thr44=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918667	NM_001146.5(ANGPT1):c.100A>G (p.Asn34Asp)	ANGPT1 (N34D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916724	NM_001146.5(ANGPT1):c.575+5_575+7del	ANGPT1	Deletion (intron variant)	not provided	GUncertain significance
Select item 2914420	NM_001146.5(ANGPT1):c.1391C>T (p.Ala464Val)	ANGPT1 (A264V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902109	NM_001146.5(ANGPT1):c.369C>T (p.His123=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896132	NM_001146.5(ANGPT1):c.809-10T>C	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891708	NM_001146.5(ANGPT1):c.730A>G (p.Asn244Asp)	ANGPT1 (N44D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890972	NM_001146.5(ANGPT1):c.311T>C (p.Ile104Thr)	ANGPT1 (I104T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864114	NM_001146.5(ANGPT1):c.499T>G (p.Ser167Ala)	ANGPT1 (S167A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2850720	NM_001146.5(ANGPT1):c.1117C>T (p.Leu373=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850719	NM_001146.5(ANGPT1):c.1120del (p.Arg374fs)	ANGPT1 (R373fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2842912	NM_001146.5(ANGPT1):c.564T>C (p.His188=)	ANGPT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2841351	NM_001146.5(ANGPT1):c.1186A>C (p.Asn396His)	ANGPT1 (N396H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835753	NM_001146.5(ANGPT1):c.551T>C (p.Ile184Thr)	ANGPT1 (I184T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2832528	NM_001146.5(ANGPT1):c.759G>A (p.Glu253=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830187	NM_001146.5(ANGPT1):c.1206-13T>C	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829161	NM_001146.5(ANGPT1):c.653A>C (p.Asn218Thr)	ANGPT1 (N18T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828969	NM_001146.5(ANGPT1):c.103C>T (p.Arg35Trp)	ANGPT1 (R35W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826370	NM_001146.5(ANGPT1):c.386A>G (p.Glu129Gly)	ANGPT1 (E129G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819134	NM_001146.5(ANGPT1):c.928C>G (p.Pro310Ala)	ANGPT1 (P309A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818332	NM_001146.5(ANGPT1):c.554T>A (p.Leu185Ter)	ANGPT1 (L185*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2812010	NM_001146.5(ANGPT1):c.665T>G (p.Leu222Trp)	ANGPT1 (L222W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811472	NM_001146.5(ANGPT1):c.833A>C (p.Glu278Ala)	ANGPT1 (E277A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810738	NM_001146.5(ANGPT1):c.808+20T>A	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803040	NM_001146.5(ANGPT1):c.639G>C (p.Lys213Asn)	ANGPT1 (K13N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798903	NM_001146.5(ANGPT1):c.867A>G (p.Val289=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793919	NM_001146.5(ANGPT1):c.1388C>A (p.Thr463Asn)	ANGPT1 (T462N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788517	NM_001146.5(ANGPT1):c.1431C>T (p.His477=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784844	NM_001146.5(ANGPT1):c.1088T>C (p.Phe363Ser)	ANGPT1 (F163S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782279	NM_001146.5(ANGPT1):c.71G>A (p.Arg24Gln)	ANGPT1 (R24Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781570	NM_001146.5(ANGPT1):c.986A>G (p.His329Arg)	ANGPT1 (H328R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772528	NM_001146.5(ANGPT1):c.811T>G (p.Leu271Val)	ANGPT1 (L71V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761397	NM_001146.5(ANGPT1):c.429A>G (p.Arg143=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756172	NM_001146.5(ANGPT1):c.977T>C (p.Val326Ala)	ANGPT1 (V126A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752168	NM_001146.5(ANGPT1):c.1481G>C (p.Arg494Pro)	ANGPT1 (R294P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747885	NM_001146.5(ANGPT1):c.606A>G (p.Glu202=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747046	NM_001146.5(ANGPT1):c.447G>C (p.Glu149Asp)	ANGPT1 (E149D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745848	NM_001146.5(ANGPT1):c.89G>T (p.Gly30Val)	ANGPT1 (G30V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2731952	NM_001146.5(ANGPT1):c.937-5G>A	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2719024	NM_001146.5(ANGPT1):c.314T>C (p.Val105Ala)	ANGPT1 (V105A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716919	NM_001146.5(ANGPT1):c.1255A>T (p.Ile419Phe)	ANGPT1 (I418F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716773	NM_001146.5(ANGPT1):c.540G>T (p.Gln180His)	ANGPT1 (Q180H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2715718	NM_001146.5(ANGPT1):c.504A>G (p.Leu168=)	ANGPT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2704992	NM_001146.5(ANGPT1):c.576-18A>C	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701964	NM_001146.5(ANGPT1):c.1336+14G>A	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697428	NM_001146.5(ANGPT1):c.467C>T (p.Thr156Ile)	ANGPT1 (T156I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2696292	NM_001146.5(ANGPT1):c.1103A>C (p.Gln368Pro)	ANGPT1 (Q367P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629591	NM_001146.5(ANGPT1):c.306T>A (p.Asn102Lys)	ANGPT1 (N102K)	Single nucleotide variant (missense variant)	ANGPT1-related disorder	GUncertain significance
Select item 2423887	NC_000008.10:g.(?_108264083)_(108509786_?)dup	ANGPT1	Duplication	not provided	GUncertain significance
Select item 2414344	NM_001146.5(ANGPT1):c.556A>C (p.Lys186Gln)	ANGPT1 (K186Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2245661	NM_001146.5(ANGPT1):c.959A>G (p.Asn320Ser)	ANGPT1 (N120S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200683	NM_001146.5(ANGPT1):c.1056C>T (p.Ser352=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2196570	NM_001146.5(ANGPT1):c.537A>G (p.Gln179=)	ANGPT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2190621	NM_001146.5(ANGPT1):c.740T>C (p.Leu247Pro)	ANGPT1 (L47P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186611	NM_001146.5(ANGPT1):c.1269T>C (p.Ala423=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179193	NM_001146.5(ANGPT1):c.218A>C (p.His73Pro)	ANGPT1 (H73P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176950	NM_001146.5(ANGPT1):c.1178A>T (p.His393Leu)	ANGPT1 (H392L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168527	NM_001146.5(ANGPT1):c.242A>G (p.Gln81Arg)	ANGPT1 (Q81R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168370	NM_001146.5(ANGPT1):c.681A>G (p.Thr227=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148785	NM_001146.5(ANGPT1):c.1003C>T (p.Leu335=)	ANGPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136692	NM_001146.5(ANGPT1):c.706C>T (p.Gln236Ter)	ANGPT1 (Q236* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2136691	NM_001146.5(ANGPT1):c.746A>G (p.Lys249Arg)	ANGPT1 (K49R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130063	NM_001146.5(ANGPT1):c.707A>G (p.Gln236Arg)	ANGPT1 (Q36R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128120	NM_001146.5(ANGPT1):c.453+20T>G	ANGPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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